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Here you can see the gene and the variant being analyzed.

We summarize a large amount of clinical data on this gene here. Links are added where available to source information.

Prediction information is summarized here, the percentage shows the likelihood that the variant is pathogenic.

Agreement is a measure (out of 5 stars) of how much our predictors agree between each other. When predictors agree, the prediction is more likely to be correct.

Data quality is a measure (out of 5 stars) of how good the underlying data for this prediction is. This is an assessment of the depth of our alignments and the number of structures available, among other factors.

This table shows literature for this exact position and protein, if it is available.

This table shows literature for this position in homologous proteins, if it is available.

This is a description of our prediction.

This plot illustrates the agreement between different classifiers. If the prediction distributions align on one side it indicates increased certainty in the prediction.

This describes the data quality for this position.

Here are the four factors that contributed most to the prediction. Factors that contributed to a benign prediction are colored blue, pathogenic factors are colored red.

This plot shows all the factors for prediction. Factors that contributed to a benign prediction are colored blue, pathogenic factors are colored red.

This plot shows the conservation on this position.

Here the conservation statistics are described.

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This is a list of interactions we found for this position.

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HDAC8

ENST00000373573 | p.His201Tyr

predicted deleterious | pathogenicity score: 97%

Summary

HDAC8 - ENST00000373573

Gene HDAC8 - ENSG00000147099 | ENSP00000362674 | ENST00000373573
Ensembl | RefSeq | UniProt
Location GRCh38 X:72329516-72573199 Ensembl UCSC
Description histone deacetylase 8

Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility. {ECO:0000269|PubMed:10748112, ECO:0000269|PubMed:10922473, ECO:0000269|PubMed:10926844, ECO:0000269|PubMed:14701748, ECO:0000269|PubMed:22885700}.;

Condition(s)
  • Cornelia de Lange syndrome 5 (CDLS5)

    A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.
    The disease is caused by mutations affecting the gene represented in this entry. OMIM



  • Wilson-Turner X-linked mental retardation syndrome (WTS)

    A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males.
    The disease is caused by mutations affecting the gene represented in this entry. OMIM



Sequence
MEEPEEPADS
10		 GQSLVPVYIY
20		 SPEYVSMCDS
30		 LAKIPKRASM
40		 VHSLIEAYAL
50		 HKQMRIVKPK
60		 VASMEEMATF
70		 HTDAYLQHLQ
80		 KVSQEGDDDH
90		 PDSIEYGLGY
100
DCPATEGIFD
110		 YAAAIGGATI
120		 TAAQCLIDGM
130		 CKVAINWSGG
140		 WHHAKKDEAS
150		 GFCYLNDAVL
160		 GILRLRRKFE
170		 RILYVDLDLH
180		 HGDGVEDAFS
190		 FTSKVMTVSL
200
HKFSPGFFPG
210		 TGDVSDVGLG
220		 KGRYYSVNVP
230		 IQDGIQDEKY
240		 YQICESVLKE
250		 VYQAFNPKAV
260		 VLQLGADTIA
270		 GDPMCSFNMT
280		 PVGIGKCLKY
290		 ILQWQLATLI
300
LGGGGYNLAN
310		 TARCWTYLTG
320		 VILGKTLSSE
330		 IPDHEFFTAY
340		 GPDYVLEITP
350		 SCRPDRNEPH
360		 RIQQILNYIK
370		 GNLKHVV
377
PDB and PDB position 3f07 201 (Explore)
gnomAD This variant is not present in gnomAD .
Pathogenicity
97%
 Agreement: Data quality:
Older predictions
Helix v3 Helix v4.0.1 Helix v4.4.1 (selected)

Literature

Helix prediction details

Prediction: pathogenic 97%

The His201Tyr mutation in the protein has been classified as pathogenic by our ensemble classifier system, with very high confidence. There is a 98% agreement between all subclassifiers.

Data quality

Data quality for this region is considered good. This means that enhanced, deep alignments are present and there is a variety of data for the algorithm to predict from.

Assistant summary

This is an automatically generated assessment, it is not reviewed by humans and only has partial access to the information contained in the report. Generating this may take some time.

Evolutionary pressure

Conservation

The wildtype was observed in 91.39% of the 22169 sequences analyzed. The variant type was observed in < 1% of observed sequences.

Structure

Toggle interactions

This residue is involved in 1 CationPi interaction, 1 Contact interaction, 4 Hydrogen Bonds, 3 Hydrophobic interactions and 1 PiPi interaction.

Interaction statistics were calculated using advanced molecular optimization techniques and may not be visible in the plain PDB file. Please download the YASARA scene to explore the interactions in more detail.